Disease-gene associations mined from literature

Literature associating HIP1R and expressive language disorder

HIP1R [ENSP00000253083]

Huntingtin-interacting protein 1-related protein; Component of clathrin-coated pits and vesicles, that may link the endocytic machinery to the actin cytoskeleton. Binds 3- phosphoinositides (via ENTH domain). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis.

Synonyms:  HIP1R,  HIP1Rp,  hHIP1R,  A0A024RBR4,  B3KN98 ...

Linkouts:  STRING  Pharos  UniProt  OMIM